Neonatal Screening Test Research Articles

Factors Affecting Successful Completion of the Neonatal Hearing Screening Test (Otoacoustic Emission Test) in the First Attempt in Healthy Term Newborns Prior to Discharge from the Hospital

Introduction: Hearing loss is one of the most prevalent congenital disorders in neonates. Infants with untreated hearing loss usually struggle greatly in terms of emotional, social, and verbal development. Early identification via neonatal hearing tests and preventive strategies have been advised in order to lessen the negative impacts of congenital hearing loss on the infant's life.Objectives: To assess the factors affecting the success of performing an otoacoustic emissions(OAE) test in stable term neonates.Methodology: A descriptive type of cross sectional study was carried out at Sri Jayewardenepura Hospital from 01/06/20222 to 01/09/2022. All healthy term neonates were included, and preterm and neonates associated with other medical conditions were excluded. Results: Out of 455 neonates, 422 (92.7%) were able to successfully complete the OAE test. 85.1% (n = 365) had a bedside sound level of 60dB-65 with a mean value of 61.62 dB at the time of OAE testing (p = 0.030). 134 (29.5%) neonates were breastfed (p = 0.281) and the majority of the newborns (n=367, 80.7%) were sleeping (p = 0.460) during the OAE test. Considering the factors affecting the successful outcome of the OAE testing, there is a statistically significant association with crying (p<0.001,OR(95% CI) = 0.026 (0.010- 0.068)), struggling (p = 0.003), OR (95% CI) = 0.194 (0.58 - 0.647), debris in the external ear (p<0.001) with OR (95% CI) = 0.019 (0.005 - 0.75), throat secretions (p <0.001), and OR (95% CI) of 0. 122 (0.034 - 0.442), external ear abnormalities (p = 0.005), and OR (95% CI) = 0.169(0.041 - 0.686).Conclusion: Crying, struggling, debris in the external ear, throat secretions, external ear abnormalities, and the sound level (dB) at the time of the test are the factors that are statistically significantly associated with the success of the OAE test. Thus, to achieve a successful OAE test, it is pivotal to keep the baby in a calm state with an optimal bedside sound level.

IMPACTO DAS ANOMALIAS CONGÊNITAS NA MORTALIDADE NEONATAL: UMA REVISÃO SOBRE FATORES DE RISCO E PREVENÇÃO

This integrative review aimed to analyze the incidence of congenital anomalies in neonates and identify associated risk factors, as well as explore the most effective preventive measures described in the scientific literature. Congenital anomalies are structural or functional defects that develop during intrauterine life and are a major cause of neonatal and infant mortality. An estimated 303,000 newborns die annually within the first month of life due to these conditions (WHO, 2016). This study was conducted through the analysis of scientific articles published in the PubMed, SciELO, and Google Scholar databases, using keywords such as "congenital anomalies," "neonates," and "risk factors." Studies published in the last ten years, in Portuguese and English, addressing the incidence and risk factors of congenital anomalies in neonates were included. The results showed that the most common congenital anomalies include neural tube defects, cardiac malformations, and chromosomal abnormalities, such as Down syndrome (PACHECO et al., 2009). The prevalence of these conditions varies according to geographic region and population (BRASIL, 2021). Several maternal risk factors were identified, including advanced maternal age, smoking, alcohol consumption, and exposure to teratogenic substances during pregnancy (ANDRADE et al., 2017). Additionally, adverse socioeconomic conditions and lack of access to quality prenatal care were highlighted as important determinants for the increased incidence of congenital anomalies (LANSKY et al., 2014). Preventive strategies suggested by the literature include folic acid supplementation before and during pregnancy, proper vaccination of pregnant women, and genetic counseling (BRASIL, 2013; ACGO, 2018). Early diagnosis through neonatal screening tests, such as the heel prick test, pulse oximetry, and hearing screening, is crucial for early identification of anomalies and enabling interventions that can improve health outcomes for neonates (MINISTÉRIO DA SAÚDE, 2021). The review also emphasized the importance of early interventions, such as corrective surgeries and supportive therapies, to improve the prognosis of neonates affected by congenital anomalies (CHRISTIANSON, 2006). These interventions can significantly reduce morbidity and mortality rates associated with these conditions, improving the quality of life of affected individuals. In conclusion, this integrative review identified significant risk factors for congenital anomalies and highlighted the importance of preventive interventions and early diagnosis to improve neonatal health outcomes. The effective prevention and management of congenital anomalies require a multidisciplinary approach, including awareness among healthcare professionals, effective public policies, and family involvement in implementing preventive strategies. Ongoing research is recommended to further understand the causes, risk factors, and effective interventions to reduce the incidence of congenital anomalies and improve neonatal health outcomes.

Impact of Lowering TSH Cut-Off on Neonatal Screening for Congenital Hypothyroidism in Minas Gerais, Brazil.

A higher incidence of primary congenital hypothyroidism (CH) has been related to increased sensitivity in neonatal screening tests. The benefit of treatment in mild cases remains a topic of debate. We evaluated the impact of reducing the blood-spot TSH cut-off (b-TSH) from 10 (Group 2) to 6 mIU/L (Group 1) in a public neonatal screening program. During the study period, 40% of 123 newborns with CH (n = 162,729; incidence = 1:1323) had b-TSH between 6 and 10 mIU/L. Group 1 patients had fewer clinical signs (p = 0.02), lower serum TSH (p < 0.01), and higher free T4 (p < 0.01) compared to those in Group 2 at diagnosis. Reducing the b-TSH cut-off from 10 to 6 mIU/L increased screening sensitivity, allowing a third of diagnoses, mainly mild cases, not being missed. However, when evaluating the performances of b-TSH cut-offs (6, 7, 8, 9, and 10 mIU/L), the lower values were associated with low positive predictive values (PPVs) and unacceptable increased recall rates (0.57%) for a public health care program. A proposed strategy is to adopt a higher b-TSH cut-off in the first sample and a lower one in the subsequent samples from the same child, which yields a greater number of diagnoses with an acceptable PPV.

Drug Testing Interpretation in the Peripartum Setting: Results of Clinician Survey.

The objectives of this study were to (1) survey obstetrical and pediatric clinicians' experience, confidence, and training in maternal and neonatal drug testing interpretation; (2) determine their proficiency in drug test interpretation; and (3) assess predictors of correct interpretation. We conducted a cross-sectional survey of clinicians caring for pregnant people or newborns at an urban academic center. We assessed clinicians' demographic characteristics, experience, confidence, and prior training in interpretation of maternal and newborn drug tests. We assessed proficiency in interpreting drug tests using 11 clinical vignettes and categorized scores as poor (0-2), fair (3-5), and good (≥6) performance to facilitate data interpretation. We used descriptive statistics to summarize responses. Multinomial logistic regression was used to determine associations of clinician characteristics and score category (reference category: poor performance). In total, 103 respondents completed the survey including 60 obstetrical clinicians (58.3%), 19 family medicine physicians (18.5%), 21 pediatric clinicians (20.4%), and 3 social workers (2.9%) (response rate, ~40%). The mean correct response was 4.1 (SD, 2.17; range, 0-11). Most respondent scores were fair (n = 47.6%), followed by good (n = 28.2%) and poor (n = 24.3%). Increased frequency, confidence, and training in interpreting maternal screening and confirmatory tests were associated with higher proficiency. Increased confidence and training in interpreting neonatal screening and confirmatory tests, but not frequency, were associated with higher proficiency. Most clinicians demonstrated fair proficiency in interpreting drug tests. Predictors of proficiency were confidence and prior training for drug test interpretation, suggesting that educational interventions could improve proficiency.

Knowledge and Attitude of Egyptian Mothers Regarding Neonatal Screening Tests for Metabolic Disorders and Hearing Loss

Knowledge and Attitude of Egyptian Mothers Regarding Neonatal Screening Tests for Metabolic Disorders and Hearing Loss

Knowledge and Attitude of Egyptian Mothers Regarding Neonatal Screening Tests for Metabolic Disorders and Hearing Loss

Knowledge and Attitude of Egyptian Mothers Regarding Neonatal Screening Tests for Metabolic Disorders and Hearing Loss

PP122 The Feasibility Assessment For Domestic Introduction Of Newborn Pulse Oximetry Screening For Critical Congenital Heart Disease

IntroductionCritical congenital heart disease (CCHD) refers to a group of heart defects that cause serious, life-threatening symptoms in the neonatal period and requires timely surgical or catheter interventions. We reviewed evidence for incorporating a mandatory neonatal CCHD screening test as a national public health project for all neonates born in Korea by analyzing the validity and cost-effectiveness of neonatal CCHD screening using pulse oximetry in Korea.MethodsWe performed a rapid literature review to establish models for the diagnostic accuracy and economic evaluation of pulse oximetry. Also, we analyzed the prevalence, mortality, and medical expenditure for different types of CCHD using the national health insurance (NHI) data. We analyzed the cost-effectiveness of pulse oximetry by comparing the group of neonates who received a combination of a physical examination and pulse oximetry, and group of neonates who only received a physical examination. For the cost-effectiveness analysis for the CCHD screening test in this study, we used a duration of one year, diagnostic accuracy as the clinical endpoint, and Life Year Gain (LYG) as the effectiveness indicator.ResultsWe used recent systematic review he pooled sensitivity can be enhanced from 76.5 percent (pulse oximetry alone) to 92 percent (combined with physical examination). We used a total of 2,334 neonates with CCHD data for the economic model. Our analysis revealed that adding pulse oximetry to the routine neonatal physical examination leads to 2.34 of LYG and a cost difference of USD1,080,602, showing a ICER of KRW610,063,240 (USD461,857)/LYG.ConclusionsConsidering the benefit of LYG and cost of reducing the complications and after effects of newborns with CCHD who survived early diagnosis, it is considered to be worthwhile in Korea for a mandatory screening test.

The Effects of Mode of Delivery on Neonatal Screening Evaluated by Automated Auditory Brainstem Response

Background/Purpose: Neonatal hearing screening results are affected by several perinatal and neonatal factors. It is known that false positivity (FP) in the failure of newborn hearing screening increases parental concern and anxiety and has a negative impact on healthcare costs. There are conflicting reports on the effect of the mode of delivery on hearing screening results. This study aimed to investigate the role of mode of delivery on neonatal hearing by comparing the automated auditory brainstem (ABR) results of newborns born with vaginal delivery (VD) or cesarean section (CS) and to identify perinatal and neonatal factors associated with failure of the first neonatal hearing screening test results.&#x0D; Methods: This retrospective case-control study was conducted at our obstetrics clinic between December 2018 and June 2019. Following the exclusion of newborns with incomplete data, with congenital and chromosomal anomalies, with CMV infection, with anatomical deformities involving the face and the ears, and who received their hearing screening

Diagnosis and treatment of congenital hypothyroidism

Background: Congenital hypothyroidism is the most common neonatal endocrine disorder, and prompt screening and treatment initiation can prevent developmental delay and growth failure.Current Concepts: The thyroid is the first endocrine gland to develop during embryogenesis. Regulation of thyroid function requires normal development of the hypothalamic-pituitary-thyroid axis, which occurs during the embryonal and neonatal periods. Defects in any of the steps involved in development and differentiation of the gland and regulation of thyroid function lead to permanent congenital hypothyroidism. Neonatal screening test programs to detect congenital hypothyroidism, which are established in 1/3 of the countries worldwide, are cost-effective with high sensitivity and specificity. Advances in molecular testing have expanded knowledge and understanding of thyroid development and function. Prompt initiation of an accurate dose of sodium levothyroxine is recommended. Frequent follow-up, including laboratory test evaluation and dose adjustments are important to maintain thyroid hormone levels within their target ranges.Discussion and Conclusion: A well-established system of newborn screening and treatment of congenital hypothyroidism is useful for management of term infants without other risk factors for this disorder. However, increasing knowledge regarding the role of genetic causes and new criteria for screening and treatment of neonates in special conditions is emerging in clinical practice.

Awareness Analysis of the National Support Policy for Newborns and Infants With Hearing Loss Who Performed National Infant Health Checkup

Background and Objectives It is well recognized that early detection and intervention are most important for the prevention of neonatal hearing loss. The national support policy in Korea for newborn hearing screening has been changed since October 2018; however, parent awareness of the change still needs to be increased. This study investigated how well parents, who have underwent national infant checkups of their children, were aware of the Korean national policy for neonatal and infant hearing loss in parents.Subjects and Method A survey of neonatal hearing tests and national support policies conducted for 353 parents was analyzed. The survey included questions about parent awareness of the neonatal hearing screening test period, confirmatory test period, national support for these expenses, and hearing aid support. Also evaluated were the necessity of national guidance and management system for neonatal hearing.Results The test time of neonatal hearing screening was correctly recognized by 82.2% of the parents. The percentage increased after the national insurance coverage started in October 2018 in Korea, and the rate was higher for parents who visited an otolaryngology clinic rather than a pediatric clinic. The test time of the confirmatory test was correctly recognized only by 20.4%. National support policy for neonatal hearing screening tests, confirmatory hearing tests, and hearing aids were acknowledged by 50.7%, 43.1%, and 56.1% of the parents, respectively.Conclusion These results indicate the necessity of efforts to increase the awareness of neonatal hearing tests and relevant support policies in Korea to ultimately achieve early hearing detection and intervention of neonates and infants in Korea.

Hipotireoidismo congênito diagnosticado no sexto dia de vida: um relato de caso.

INTRODUCTION: Congenital hypothyroidism results from insufficient secretion of thyroid hormones, which are related to the maturation of the central nervous system, being the main cause of preventable intellectual disability in childhood. The diagnosis can be suspected from the neonatal screening test, revealing its importance, since most cases are asymptomatic or oligosymptomatic at birth with nonspecific manifestations, as well as the classic manifestations become evident only later, causing neurological damage. OBJECTIVE: describe a clinical case of a patient diagnosed with congenital hypothyroidism on the sixth day of life, screened through the neonatal screening test, with subsequent laboratory confirmation, highlighting points of diagnosis, treatment and clinical follow-up, avoiding the progression of late diagnosis. CASE REPORT: male patient, born through normal delivery without complications, who developed asymptomatic hypoglycemia at the first hours of life, treatment resistant. The patient presented alterations compatible with congenital hypothyroidism in the neonatal screening test, with subsequent confirmation through laboratory tests. Thyroglobulin replacement was started on the seventh day of life, with progressive improvement in hypoglycemia and favorable clinical evolution throughout the first months of life. CONCLUSION: Congenital hypothyroidism is the main cause of preventable intellectual disability in childhood, it must be diagnosed as early as possible, demonstrating the importance of neonatal screening tools. After the institution of appropriate treatment and clinical follow-up, the evolution is favorable, avoiding the drastic progression of late diagnosis.

HIPOTIREOIDISMO CONGÊNITO DIAGNOSTICADO NO SEXTO DIA DE VIDA: UM RELATO DE CASO.

Introduction - Congenital hypothyroidism results from insufficient secretion of thyroid hormones, which are related to the maturation of the central nervous system, being the main cause of preventable intellectual disability in childhood. The diagnosis can be suspected from the neonatal screening test, revealing its importance, since most cases are asymptomatic or oligosymptomatic at birth with nonspecific manifestations, as well as the classic manifestations become evident only later, causing neurological damage. Objective - describe a clinical case of a patient diagnosed with congenital hypothyroidism on the sixth day of life, screened through the neonatal screening test, with subsequent laboratory confirmation, highlighting points of diagnosis, treatment and clinical follow-up, avoiding the progression of late diagnosis. Case report - male patient, born through normal delivery without complications, who developed asymptomatic hypoglycemia at the first hours of life, treatment resistant. The patient presented alterations compatible with congenital hypothyroidism in the neonatal screening test, with subsequent confirmation through laboratory tests. Thyroglobulin replacement was started on the seventh day of life, with progressive improvement in hypoglycemia and favorable clinical evolution throughout the first months of life. Conclusion - Congenital hypothyroidism is the main cause of preventable intellectual disability in childhood, it must be diagnosed as early as possible, demonstrating the importance of neonatal screening tools. After the institution of appropriate treatment and clinical follow-up, the evolution is favorable, avoiding the drastic progression of late diagnosis.

Investigation of the effect of vitamin K1 prophylaxis on newborn screenings tests in newborns.

Routine screening for hereditary disorders in newborns includes screening for treatable metabolic and endocrine disorders, such as biotidinase deficiency, galactosemia, maple syrup urine disease, hypothyroidism, and cystic fibrosis. Incorrect test results may be encountered due to the use of vitamin K1. To investigate the interference effect of vitamin K1 on neonatal screening tests and to raise awareness of erroneous measurements. Heel blood samples were taken from 25 newborns born in a neonatal intensive care unit. Dry blood C0, C2, C3, C4, C4DC, C5:1, C5OH, C5DC, C6, C6DC, C8, C8:1, C8DC, C10, C10:1, C10DC, C12, C14, C14:1, C14:2, C16, C16:1, C18, C18:1, C18:2, C18:OH, methylglutaryl, valine, leucine/isoleucine, methionine, phenylalanine, argininosuccinic acid, aspartate, alanine, arginine, citrulline, glycine, ornithine, and glutamate tests were studied using the tandem mass spectrometry (MS) method. The results of the heel blood samples obtained before and after the application of vitamin K1 (Phyto menadione) were compared. In two studies conducted with in vitro and in vivo tests, C0, C2, C3, C4, C4DC, C5, C5OH, C6, C8, C10, C10:1, C14, C16, C16:1, C18, C18:1, methylglutaryl, phenylalanine, argininosuccinic acid, tyrosine, aspartate, arginine, citrulline, glycine, and glutamine were all significantly elevated (p < 0.05). Heel blood samples may yield false results due to vitamin K1 administration. In the case of doubtful results, a new sample should be taken and the measurement should be repeated.

Knowledge of Neonatal Metabolic Screening in Pregnant Women

Introduction: neonatal screening is a laboratory test used worldwide for the detection of pathologies or metabolic deficits before the disease manifests itself, but of which there is little knowledge in pregnant women. Objective: to determine the level of knowledge that pregnant women have about the Neonatal Metabolic Screening test. Methods: this was a quantitative, descriptive, and cross-sectional research, developed in a public health institution in the province of Cotopaxi with a sample of 200 women. Data collection was carried out through a survey that allowed classifying knowledge into high, medium, and low. Results: the highest percentage of pregnant women was in the medium level of knowledge (44 %), a considerable percentage of pregnant women was presented in a low level (43,5 %) and in a lower proportion a high level (12,5 %). The highest ratio of low knowledge was observed in the youngest pregnant women (15 to 20 years old) and the oldest (over 43 years old), as well as in those with primary and secondary education. Conclusion: the level of knowledge that pregnant women has about neonatal metabolic screening on the general knowledge dimension of the test and the medical procedure, was medium in those aged between 21 and 42 years and low in those between 15 and 20 years., as well as in those aged 43 and over. This shows that there is a lack of knowledge about the test in pregnant women attending this health unit

ASSESSMENT OF THE TONGUE FRENULUM IN BECKWITH-WIEDEMANN SYNDROME: PRE- AND POSTFRENECTOMY FINDINGS

Beckwith-Wiedemann syndrome (BWS) is a genetic condition of overgrowth characterized by the presence of congenital anomalies and manifested through the triad omphalocele, gigantism, and macroglossia. The aim of this study is to report the pre- and postfrenectomy findings in a female patient aged 9 months with BWS. The patient was evaluated by the protocol of the tongue's frenulum for babies (Neonatal Tongue Screening Test) and scored 16 points, indicating the need for frenectomy. The surgical procedure was performed using the traditional technique. Wound healing was satisfactory, and the total score obtained in the protocol reapplication (5 points) showed functional results of improvement in sucking and tongue mobility, confirming the importance of the frenectomy. After the surgery, macroglossia was observed as a maternal complaint (previously not mentioned). Frenectomy, despite the macroglossia related to the BWS, allowed anatomical and functional advances of the tongue in the present clinical case.

Benefits of rescreening newborns of mothers affected by autoimmune hypothyroidism.

IntroductionInfants of mothers with autoimmune hypothyroidism (AH) are at risk of developing late-onset hypothyroidism, often escaping at newborn screening. This condition might be caused both by the action of maternal antibodies and/or by maternal treatment.ObjectivesThe aim of this study is to evaluate the prevalence of AH in the mothers of children born in Veneto region, Italy, and to define what is the most appropriate management for these newborns.MethodsNewborns of six different hospitals with a mother suffering from AH and with negative neonatal screening for congenital hypothyroidism (CH) were included in the study. Between 15 and 20 days of life, we collected a serum sample for the evaluation of thyroid function (thyroid-stimulating hormone (TSH), free thyroxine (FT4), free triiodothyronine (FT3)) and anti-thyroid antibodies. On the same occasion, a capillary blood sampling was performed for a second screening test.ResultsMaternal AH has a prevalence of 3.5%. A total of 291 newborns were enrolled from November 2019 to May 2021. Whereas the 11.4% of infants had a slight elevated serum TSH (>6 mU/L) and required a follow-up, only 2 children presented an elevated TSH level at the second screening test. One of these, with the gland in situ, showed persistently elevated serum TSH levels and required treatment with levothyroxine.ConclusionsMaternal AH rarely caused neonatal thyroid dysfunction. We suggest to reassess newborns from mothers with AH 15 days after birth by means of a second neonatal screening test. This procedure avoids false negatives due to maternal thyroid status, is less invasive and cheaper than the serum TSH evaluation, and prevents a long follow-up.

Effectiveness of a Screening Toolkit on Empowering Mothers about Neonatal Screening Tests for Metabolic Disorders and Hearing Defects

Effectiveness of a Screening Toolkit on Empowering Mothers about Neonatal Screening Tests for Metabolic Disorders and Hearing Defects

Effectiveness of a Screening Toolkit on Empowering Mothers about Neonatal Screening Tests for Metabolic Disorders and Hearing Defects

Effectiveness of a Screening Toolkit on Empowering Mothers about Neonatal Screening Tests for Metabolic Disorders and Hearing Defects

Thyroid function in children with Prader-Willi syndrome in Southern China: a single-center retrospective case series

BackgroundTo investigate hypothalamic-pituitary-thyroid function in children of different ages, nutritional phases, and genotypes that were diagnosed with Prader-Willi syndrome (PWS), as well as the effects of recombinant human growth hormone (rhGH) treatment on thyroid hormones in PWS patients.MethodsOne hundred and thirty PWS patients (87 boys and 43 girls) aged from newborn to 15 years (y) (median 1.25 y, mean, SD: 2.95 ± 3.45 y), were surveyed in this study. Serum thyroid hormone levels were examined at least once per3-6 months during the 2 years follow-up study. Central hypothyroidism (C-HT) was identified as low/normal thyroid-stimulating hormone (TSH) and low free thyroxine 4 (FT4).ResultsAll study participants had normal neonatal TSH screening test results. The prevalence of C-HT is 36.2% (47/130). No C-HT cases were diagnosed in PWS either below 1 month (m) or above 12 y. The prevalence of C-TH would be increased with age before 3 y until reaching the peak, followed by a gradual decline over the years. The prevalence of C-HT varies significantly at different ages (Pearson's χ2 = 19.915; p < 0.01). However, there is no correlation between the C-HT prevalence and nutritional phases (Pearson's χ2 = 4.992; p = 0.288), genotypes (Pearson's χ2 = 0.292; p = 0.864), or rhGH therapy (Pearson's χ2 = 1.799; p = 0.180).ConclusionsThis study suggests the prevalence of C-TH was increased with the age before 3 y, and reached the peak in the 1 to 3 y group, then gradually declined over the years. There is no correlation between C-HT prevalence and nutritional phases, genotypes, or rhGH treatment.

Genetic analysis and prenatal diagnosis of a Chinese pedigree affected with Usher syndrome due to novel compound heterozygous variants of PCDH15 gene

To analyze the clinical features and genetic variant in a patient with Usher syndrome. Whole exome sequencing was carried out for the patient. Suspected variants were validated by Sanger sequencing of her parents and fetus. The proband was found to harbor compound heterozygous variants c.17_18insA (p.Tyr6Ter*) and c.4095_4096insA (p.Arg1366Lys fs*38) of the PCDH15 gene (NM_033056), which were respectively inherited from her father and mother. The same variants were not detected in 100 healthy controls. Based on the guidelines of the American Society of Medical Genetics and Genomics, both variants were predicted to be pathogenic (PVS1+PM2+PP4). By prenatal diagnosis, her fetus was found to carry the c.4095_4096insA variant. After birth, the child has passed neonatal hearing screening test, and no abnormal auditory and visual function was found after the first year. The compound heterozygous variants c.17_18insA (p.Tyr6Ter*) and c.4095_4096insA (p.Arg1366Lys fs*38) of the PCDH15 gene probably underlay the Usher syndrome is this proband.